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- W2148277974 abstract "X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder." @default.
- W2148277974 created "2016-06-24" @default.
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- W2148277974 date "2012-01-01" @default.
- W2148277974 modified "2023-10-17" @default.
- W2148277974 title "X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management" @default.
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- W2148277974 doi "https://doi.org/10.1186/1750-1172-7-51" @default.
- W2148277974 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3503704" @default.
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- W2148277974 hasPublicationYear "2012" @default.
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